First-Line Management for Ehlers-Danlos Syndrome Hypermobile Type
The first-line management for individuals with Ehlers-Danlos Syndrome (EDS) hypermobile type should focus on low-resistance exercise to improve joint stability by increasing muscle tone, combined with physical therapy for myofascial release. 1
Core Management Strategies
Physical Rehabilitation
- Low-resistance exercise is recommended as the cornerstone of treatment to improve joint stability by increasing muscle tone 1
- Physical therapy with myofascial release techniques is often necessary to facilitate participation in exercise programs 1
- Exercise training should be specifically designed to avoid joint injury while promoting stability 2
- Orthopedic surgery should be delayed in favor of physical therapy and bracing due to decreased stabilization and pain reduction outcomes compared to those without EDS hypermobile type 1
Pain Management
- A pain management specialist is crucial for patients with chronic pain 1
- Neuromodulators (tricyclic antidepressants, SSRIs, SNRIs, pregabalin, gabapentin) should be considered for pain management 1
- Antispasmodics (hyoscyamine, dicyclomine, peppermint oil) can be used for abdominal pain 1
- Opioids should be avoided specifically for abdominal or chronic pain 1
- Vitamin C supplementation may improve hypermobility as it is a cofactor for cross-linking of collagen fibrils 1
Cardiovascular Monitoring
- Echocardiogram is recommended to evaluate for aortic root dilatation 1
- For normal aortic root size: repeat echocardiogram every 2-3 years until adult height is reached 1
- For aortic root dilation: more frequent monitoring based on diameter and rate of increase 1
Gastrointestinal Management
- For gastritis and reflux: proton pump inhibitors, H-2 blockers, and sucralfate 1
- For delayed gastric emptying: promotility agents 1
- For irritable bowel symptoms: antispasmodics, antidiarrheals, and laxatives as needed 1
- Consider testing for celiac disease in patients with GI symptoms, as risk is elevated in this population 1
Autonomic Dysfunction Management
- For POTS (Postural Orthostatic Tachycardia Syndrome): increase fluid and salt intake, exercise training, and use of compression garments 1
- Consider pharmacological treatments for volume expansion, heart rate control, and vasoconstriction for those who don't respond to conservative measures 1
Bone Health
- Encourage calcium and vitamin D supplementation 1
- Recommend low-impact weight-bearing exercise 1
- Consider DXA scan for height loss greater than one inch 1
Special Considerations
Mast Cell Activation Syndrome (MCAS)
- When MCAS is suspected, consider treatment with histamine receptor antagonists and/or mast cell stabilizers 1
- Advise patients to avoid triggers such as certain foods, alcohol, strong smells, temperature changes, and specific medications 1
Dietary Interventions
- Consider special diets including gastroparesis diet (small particle diet) and various elimination diets (low FODMAP, gluten-free, dairy-free) 1
- Ensure dietary interventions are delivered with appropriate nutritional counseling to avoid restrictive eating 1
Multidisciplinary Approach
- Medical geneticists are the primary specialists for diagnosis and classification of EDS 3
- Rheumatologists often evaluate joint hypermobility using the Beighton scale 3
- Gastroenterologists assess common GI manifestations 3
- Cardiologists evaluate for aortic root dilation 3
- Neurologists may evaluate for comorbid POTS 3
Common Pitfalls to Avoid
- Prescribing opioids for chronic pain management, which should be avoided 1
- Delaying physical therapy, which is central to managing these conditions 4
- Using inappropriate or overly aggressive physical therapy interventions, which can cause iatrogenic injuries 4
- Focusing only on joint symptoms while missing systemic manifestations 4
- Failing to recognize the need for a multidisciplinary approach 5